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Article

Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function.

Brain : a journal of neurology - 4 Apr 2024

Di Berardino Claudia, Mainardi Martina, Brusco Simone, Benvenuto Elena, Broccoli Vania, Colasante Gaia

Abstract excerpt

Dravet syndrome is a severe epileptic encephalopathy, characterized by drug-resistant epilepsy, severe cognitive and behavioural deficits, with increased risk of sudden unexpected death (SUDEP). It is caused by haploinsufficiency of SCN1A gene encoding for the α-subunit of the voltage-gated sodium channel Nav1.1. Therapeutic approaches aiming to upregulate the healthy copy of SCN1A gene to restore its normal...

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Identifiers

PMID: 37812819
DOI: 10.1093/brain/awad350
PMCID: PMC10994529

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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